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  2. Ectodermal dysplasia
  3. CLDN1
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Ectodermal dysplasia

Gene: CLDN1

Red List (low evidence)
CLDN1 (claudin 1)
EnsemblGeneIds (GRCh38): ENSG00000163347
EnsemblGeneIds (GRCh37): ENSG00000163347
OMIM: 603718, Gene2Phenotype
CLDN1 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red: 'Cicatricial frontoparietal alopecia' listed in the OMIM clinical synopsis for ILVASC (MIM:607626) but no further evidence for the role of CLDN1 in scarring alopecia.
Created: 13 Jul 2017, 2:42 p.m.
Created: 13 Jul 2017, 2:42 p.m.

Panel version: Imported from Familial cicatricial alopecia panel version 0.36

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
  • scarring alopecia
OMIM
603718
Clinvar variants
Variants in CLDN1
Penetrance
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CLDN1 was added gene: CLDN1 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626; scarring alopecia